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Chasing the Next Autism Breakthrough

When Geraldine Dawson stepped into a waiting area in her laboratory to greet Joseph Zdrilich and Claire Lim, researcher and parents did not know one another. But already they were allies in a quest at Duke to discover new autism treatments. Andy, the couple’s energetic five-year-old, was diagnosed with autism the year before. Sometimes he tuned into toys more than people. Not all his words were intelligible. Children who met Andy on the playground did not always stick around to play. “It’s heartbreaking to watch,” says Zdrilich.

So the parents volunteered their son for an experimental study exploring whether umbilical-cord blood can help heal the brains of people with autism. The study is one of several linked to Duke’s new Center for Autism and Brain Development, which Dawson directs. No one knows if the unique mix of cells in cord blood can treat autism. But Lim and Zdrilich were intrigued by preliminary research at Duke, a worldwide innovator in cord-blood medical therapies, suggesting that the cells might help. For them, a long-shot inquiry with a potentially huge payoff was worth the time and effort. “We want to do everything we can to help him,” Andy’s father says.

That same logic appeals to Dawson, who is participating in and championing a wide range of autism research at Duke, including projects with uncertain outcomes. “There is a point where you feel it’s worth taking risks. If you are too safe in what you study, the chances of really having a breakthrough fall,” Dawson says.

If anyone understands what it takes to land a breakthrough in the field of autism, Geri Dawson does. Over more than thirty years, she has made several high-profile discoveries, many of them at the University of Washington. As the science officer of the national autism-advocacy group Autism Speaks, she helped funnel tens of millions of dollars to research projects intended to accelerate the translation of scientific insights about autism into treatment useful to people living with the disorder.

“Geri’s impact has been both deep and wide,” says Thomas Insel, the director of the National Institute of Mental Health, who sits with Dawson on a committee that advises the federal government on where to invest autism research dollars. “Deep in the sense that she has done so much to focus the research community on what is most important to families. And wide in the sense that she has brought researchers and clinicians together.”

At Duke, where Dawson arrived in 2013, the new center is a response to a public-health enigma. Autism rates in the U.S. have rocketed in recent years. One in sixty-eight children are diagnosed with the lifelong disorder, a 125 percent increase since 2002, a federal survey estimates. Improved diagnosis explains a share of the increase, but not all. At the same time, scientists at Duke and elsewhere understand the biological basis of autism better than ever, progress that could point the way to new treatments.

“In five years or less, we’ll be one of the top autism centers, under Geri’s leadership,” predicts Helen Egger, a child psychiatrist who leads Duke’s division of child and adolescent psychiatry and who helped establish the autism center. “She has a very clear vision and is extremely effective in making things happen.”

If you ever want to immerse yourself in a highly challenging arena, consider autism research. To start with, autism is not one thing. It’s a range of disorders (with multiple causes) that are aptly described as a spectrum. Children and adults with the diagnosis can look vastly different from one another. Nearly half have average or higher intelligence. Some are brilliant, with prodigious memories and rare talents. Others are cognitively impaired, some seriously. But appearances can deceive in placing a person on the spectrum. Computer-generated voices allow some nonverbal people with autism to type and then share highly articulate thoughts, increasingly in college classrooms.

Despite that diversity, people on the autism spectrum share three traits. They have trouble communicating, which can include speaking or understanding language. They struggle with reading and responding to social cues—even other people’s facial expressions, which most people translate with lightning speed. And they tend to engage in repetitive behaviors, such as talking incessantly about a narrow interest or repeating gestures that to many may appear odd.

Dawson first encountered autism while growing up in southeastern Washington, the bright daughter of a nurse mother and scientist father who researched nonmilitary energy uses for plutonium at the Hanford Nuclear Reservation, a one-time Manhattan Project facility. While in junior high school in the 1960s, Dawson babysat her neighbor’s six-year-old twins, boys who could only point and make other simple gestures to express themselves. Objects, including billiard balls, engaged them more than people. Disruptions of daily routines, including the precise spots where their cutlery should be placed on the lunch table, prompted meltdowns. There was no evidence either would ever be able to look after himself.

Dawson was fascinated because the behavior of all people interested her, even as a kid. “In the same way some people are drawn to art or are drawn to the forest to study plants, I’ve always been inherently interested in human behavior. I’ve always wanted to understand what makes us all the same on one level and then what explains all our variation.”

While a graduate student studying developmental and clinical psychology in the late 1970s at the University of Washington, Dawson had as her first clinical patient a boy much like those twins. He spoke just a few words and gave people little notice. Faculty members in her department flew in an expert from the University of North Carolina at Chapel Hill, a longtime site of innovation for autism treatment, to learn about therapy under development there. “We didn’t have anything we could offer this family,” Dawson says.

Dawson and her professors weren’t operating entirely in the dark. By the time she reached graduate school, child-development experts had abandoned the harsh theory that cold-hearted parents, particularly unemotional mothers, caused autism. They recognized that the trouble somehow started in the brain, likely in regions vital to communicating and other social behaviors. But no one knew what brain anatomy was involved, let alone how to try to change it. Dawson’s emotional reaction was sadness for her first patient and his family. But intellectually, the research scientist’s daughter was intrigued.

“I wondered what could be different in the brain that could make it that some children form social relationships with parents and other people and others do not,” Dawson says. “I thought if we could answer that, we would not only diagnose and treat autism better, we’d find something really important about human nature.”

While a clinician-scientist and eventually as an autism center director, Dawson chased answers to those questions, working with children and their parents and with other researchers in Seattle from 1985 to 2008. That’s where she first displayed a knack for selecting research questions that, if cracked, had wide, practical potential. “Geri has always seen the whole chess board very well. She has always had a great passion for research,” says Rob Ring, the chief science officer for the advocacy group Autism Speaks, the job Dawson held from 2008 until an expanding interdisciplinary research program attracted her to Duke.

In the 1990s, autism wasn’t diagnosed until a child was around age four. That was because screenings focused on deficits in language and other behaviors thatappeared in unimpaired children after age three. But Dawson became convinced that autism could be detected earlier. She had noticed that when she walked into treatment rooms to work with preschool-age patients diagnosed with autism, the children did not look up to see who was entering, something unimpaired children did as infants. Dawson suspected infants with autism didn’t look up either.

The hunch was important because early diagnosis steers children more quickly to behavioral therapy that by that time was known to improve the speech and behavior of many children diagnosed with autism. To test her hypothesis, Dawson and graduate student Julie Osterling mined the most un-data-like sources: family videos of first birthday parties. Such highly ritualized events, it turns out, efficiently capture variation in behavior among children encountering the same unexpected thing, or social stimuli, in scientist-speak. “How often do you present a flaming object to a baby?” Dawson asks, to explain the singular opportunity.

When a father or mother places a cake with a lit candle before a child without autism, the child looks around at family members to make sure all is okay. If a grandmother calls the baby to look her way so she can take a photo, the infant turns her head. Birthday boys and girls later diagnosed with autism frequently do neither. They may cover their ears or stare into space, behavior looked for in screening protocols that achieve earlier diagnosis today.

Also in the 1990s, Dawson’s lab devised ways, still used today, to measure electrical activity to eavesdrop on the brains of very young children to hunt for signs of autism before they can speak. Her research team was the first to observe that the brains of children with autism respond in normal ways to a photograph of a familiar toy but respond with lower than normal intensity when shown a photograph of a familiar face, breakeven if that face is the child’s mother. That suggested that brain regions that normally motivated children, including babies, to pay attention to and recognize social stimuli, including human faces, do not develop normally in these children.

These insights helped Dawson and others develop a description of autism that filled in many of the blanks she encountered in graduate school. Study after study has shown that what is now known as social-brain circuitry is less well developed among people on the spectrum. That circuitry is important to communication and other exchanges among our highly social species. It’s the social brain that motivates very young children to interact with family members, communicate with others, and perceive the feelings of people around them, the very thing that kids with autism are less likely to do.

Those drives are more important than you might think. Every social interaction is a learning opportunity for a young child. They help them master massively important things such as how to decipher and speak language and how to read facial expressions and other body language. The gains are even bigger than that. This learning stimulates literal brain development, physical changes in the human brain needed to support social exchanges. This mix of neural software and hardware helps a child secure a seat in mainstream kindergarten and, one day, hold a job.

This news was not all bad for children diagnosed with autism, who are less likely to seek out social interactions. Sometimes, Dawson and a prime collaborator later learned, you can give children what they missed early on.

Before greeting Luke Deis and his mother, Jamie, in a clinic waiting room at Duke last October, Dawson made sure the light switch in her therapy room down the hall was covered with plastic. Luke, just two years old, is intrigued by light and loves to turn light switches on and off again and again, his mother had warned her. Dawson wanted his attention on her.

As soon as Luke was in her room, Dawson invited the two-year-old in black sneakers and jeans to play. “Tap, tap, tap,” she said, while striking a sheet of paper with a thick purple felt-tip marker, and then turned to Luke. “It’s your turn,” she said, looking him in the eye and smiling. “Yay, yay, yay!,” she said when he did the same thing. With the ease of a woman who gets up early enough every workday morning to either lift weights or work out on a StairMaster, Dawson sat in a tiny kid’s chair, slid around on the floor, moved about on her knees—whatever was needed to keep Luke’s eyes level with hers.

When Luke noticed a white plastic plate where a light switch might be near the door, he moved in its direction, but Dawson put her hand on his shoulder and guided him away. For a time, she followed him around the room, carrying a copy of a wooden stick and hand drum he had picked up. Whatever he did with it, she did the same, until a boy not always eager to make eye contact peeked at her over his shoulder to see if she was still following him.

“I suggest that you do this, too,” Dawson said to Luke’s mother, who studied every move Dawson made with her son. “Purchase five or six sets of identical toys and do something together with them for ten minutes every day. What I predict is that he’ll start watching you to see if you do what he does. See if he imitates you. It’s the social imitation that we want him to learn.”

What looked like play was a therapy called Early Start Denver Model, which Dawson created with Sally Rogers, now of the University of California at Davis. It uses activities children love to motivate them to interact with other people. The treatment, if delivered intensively, has been shown to improve the language, behavior, and even IQ scores of some children, reducing the need for therapy later in life. Most startling, evidence published in 2012 showed that the sessions change children’s brains. After intensive treatment, the children’s brains were stimulated more by human faces than by toys.

That finding has won Dawson and Rogers tributes, from colleagues, the federal Interagency Autism Coordinating Committee, even Time magazine, which selected the finding as one of the top 10 medical breakthroughs of 2012. A book they coauthored on therapy has been published in thirteen languages. Dawson and colleagues have trained people in the techniques as far away as India and China, and she is helping a young Duke faculty member adapt it to the needs of poor families in South Africa. But Dawson is well aware of the barriers to and limitations of behavioral therapy.

Intensive treatment from a trained therapist is expensive, $35,000 to $50,000 annually when delivered by a professional. Despite lobbying by Dawson and others, not all states require insurers to cover the early-intervention therapy for autism (though thirty- eight states, with North Carolina not yet among them, now do). Also, despite the rise of the Denver model and other behavior therapies, a good number of people with autism remain significantly disabled. “We used to say 50 percent of individuals with autism never learn to speak. Now it’s like more than 25 to 30 percent,” Dawson says. “But keep in mind that up to 30 percent of individuals with autism still don’t speak. Our work is not done.”

Dawson left the University of Washington in 2008 to become the first science officer for Autism Speaks out of a desire to funnel grants to support promising research in laboratories all over the country and to campaign for more support for families contending with autism. The latter mission resulted in her testifying before a U.S. Senate committee and speaking at the United Nations. When she accepted the job, Dawson declined a move from Seattle to New York, where the nonprofit is based. Instead she, her engineer/artist husband, and her youngest child, a daughter who is now an undergraduate at Duke, moved to North Carolina. (Her son, now a vice president at the online real-estate database Zillow, remained in Seattle.) Dawson has deep roots here. Her father grew up on a very modest farm in coastal Pamlico County before attending North Carolina State University. She set up her base of operation at the University of North Carolina at Chapel Hill, where she had been an assistant professor between finishing graduate school and joining the faculty in Seattle.

While based at Chapel Hill, Dawson started conadsulting with Joanne Kurtzberg, the pioneering cord-blood researcher at Duke. Kurtzberg’s laboratory has developed successful cord-blood treatments for cancers, blood disorders, immune deficiencies, and more. Her research shows that cord-blood cells can cross the blood-brain barrier. They can reduce inflammation, a disruptive state observed in the brains of people with autism. In mouse studies, stem cells within the blood specifically stimulate repairs to myelin layers on neurons, which increase the speed at which impulses move the length of brain cells, something that might improve impaired connectivity in the brain of a person with autism. Dawson’s expertise is “really informing” both the new cordblood trial and the evaluations that will follow, Kurtzberg says.

Now that she’s based at Duke, Dawson is collaborating on several more autism research projects. She and Egger, the division of child and adolescent psychiatry leader, are working with electrical and computer engineer Guillermo Sapiro in the Pratt School and others to automate early autism screening. It’s needed. The American Academy of Pediatrics recommends that all toddlers be screened for autism. But the checklist used in the screenings identifies many false positives, a move that puts parents through unnecessary worry and that only lengthens a waiting list for the next-step diagnostic assessments.

Most pediatricians don’t have the training or time to accurately screen very young children for signs of autism. So the Duke team has created what looks like a video player on a tablet-sized computer. The screen displays footage of plush stuffed animals and people on the screen. But what the children cannot see is that the device also records and characterizes how they respond to what gets displayed, noting the presence or lack of gestures or eye contact typical of the traits Dawson observed in those first-birthday videos back in Seattle.

The list of Dawson’s collaborations goes on. She is especially excited about studies in zebrafish, a new favorite research animal in genetics labs, and mice that are engineered to carry variations of genes closely resembling some associated with human autism traits. Those studies create changes in an organism that might illuminate how the brains of people with autism behave differently on the molecular scale, potentially clarifying the molecular basis for some types of autism. They also are living laboratory subjects that can be used to screen drugs that might correct those differences.

“What we’re working on is to establish a very strong clinical-trials capacity,” Dawson says.

Dawson regularly brings together Duke scientists and clinicians on the front lines of autism treatment to discuss the research insights into the disorder. Among them is growing evidence that health problems—anxiety, sleep issues, and seizures—frequently plague people with autism. At Duke, Dawson also is doing her best to provide what more and more people with autism now demand: a voice in the discussion about what people like them need.

In October, Dawson invited John Elder Robison, a neurodiversity activist, to Durham to tutor Duke autism experts about the people with autism they are trying to help. Robison has known Dawson since 2008, when she invited him to join the scientific advisory board of Autism Speaks after he published the best-selling book Look Me in the Eye: My Life With Asperger’s. Dawson, he says, has always impressed him. “She has a strong commitment to relieving suffering while at the same time respecting us as individuals and [respecting] that neurodiversity is part of this world.”

Robison wasn’t diagnosed with autism until he was in his forties. The son of university professors in western Massachusetts, Robison had so much trouble getting along with other kids and teachers in high school that he left, as a sophomore. With so much time alone, he immersed himself in electronics, developing skills to a level where he was in demand among rock ’n’ roll bands. He’s the guy who invented the illuminated, fire-breathing, and rocket-launching special-effects guitar played by members of the arena band KISS. Robison left that industry and later the toy and electronics industries, feeling incapable of fitting in at any organization. Eventually he decided just to fix cars at home, a project that bloomed into one of the largest independent Land Rover, Rolls Royce, and Bentley restoration and service outfits in the country.

In the elegant maple-paneled Love Auditorium in the Levine Science Research Center, Robison paced back and forth across the stage during his talk while a loop of his beautiful and disparate photographs flashed by on a screen behind him: a car’s shiny engine, circus dogs, a red barn, gray clouds, and a juggler among them. After detailing the paradox of how autism had granted him sizable gifts and continuously disrupted his life, he had two messages for the medical and scientific listeners in the audience: Help people where they need help, he urged, but also accept, celebrate, even encourage their quirky strengths.

“We have to find a way to encourage the talents of people on the spectrum. Don’t always focus on what’s wrong, not normal. You have a duty to look for exceptionalism,” Robison said.

Ever adapting to new information, Dawson is trying to do as Robison says. She and Luke’s mother, for instance, are allowing the child to use flashlights to play with light, just not during therapy. “For all I know, he’s going to be a physicist. I don’t want to take that away from him,” Dawson says.

At the same time, she’s doing anything she can to help with research at Duke that could reduce the pain and deficits that autism can produce. Luke might need that, and so might Andy, the five-year-old enrolled in the cord-blood trial. Unless something unexpected occurs, so will many more souls.

Focusing Attention on Autism

The Duke Center for Autism and Brain Development, which officially opens this spring, is not the start of autism care at Duke. Medical center clinicians have experience diagnosing and treating people with autism. Campus scientists already explore topics beyond umbilical-cord blood and genetics, including the potential of electrical brain stimulation or music therapy to improve spoken language.

The new center will better integrate and expand all of the above, in addition to training more autism experts. As the number of people diagnosed with autism rises worldwide, many U.S. universities have made moves to expand autism-related services for people along the spectrum, including Harvard, Johns Hopkins, Yale, and Emory. All will compete for the same federal, pharmaceutical industry, and philanthropic funding. Geri Dawson, who joined the Duke faculty in 2013 to lead the center, says Duke is in an excellent position to succeed in that climate. “Duke has made a strong commitment to interdisciplinary research in a way that goes beyond most universities. Interdisciplinary collaboration is essential for tackling autism.”

Coordination between clinical care and science will be strengthened. Patients will be invited to contribute genetic information, behavioral profiles, brain scans, and other data to a patient registry, for instance. Medical researchers increasingly depend on such databases to better detect variation and patterns in human illness and disability. Patients also will be invited to join research studies as they develop.

The center’s clinical research laboratories should open in April at Pavilion East at Lakeview, a retail and office development a few minutes west of Duke Hospital. An autism clinic is expected to open in the same building by July. In addition to treating autism-specific symptoms, the clinic will link patients to Duke specialists in gastrointestinal ailments, sleep difficulties, anxiety, and other serious health issues people with autism contend with. Medical residents, psychology interns, and graduate students will start rotations through it all this summer.

If all goes as planned, Dawson predicts that advances will result. “We are well-positioned to take the field in entirely new directions, to develop novel treatments that could impact the lives of people with autism.”